Megan Shand

blend-seq improves variant discovery by combining short and low-coverage long reads, enhancing SNP detection and structural variant recall while maintaining precision.

Open flow cell on a circular wafer with mostly natural nucleotides and no reversible terminators: about 300 bp reads at $1/Gb, 99.6% SNP accuracy on reference human genomes.

The paper presents a pipeline to call mitochondrial DNA variants in gnomAD, reporting population frequencies for 10,850 unique mtDNA variants across 56,434 individuals.

The paper introduces a benchmark dataset of validated somatic mutations derived from cell lineage, providing a large collection of true somatic variation for use in mutation discovery pipelines.